Variant report

Variant	rs61793414
Chromosome Location	chr4:22503702-22503703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22501387..22504925-chr4:22515596..22518632,4	MCF-7	breast:
2	chr4:22503270..22505334-chr4:22512826..22515443,2	MCF-7	breast:
3	chr4:22500720..22505653-chr4:22515837..22519334,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152990	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10516410	0.89[ASN][1000 genomes]
rs4271996	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55747913	0.88[ASN][1000 genomes]
rs55785050	0.82[ASN][1000 genomes]
rs58471362	1.00[ASN][1000 genomes]
rs58836068	0.88[ASN][1000 genomes]
rs61792058	1.00[AMR][1000 genomes]
rs61793374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61793403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61793407	0.82[ASN][1000 genomes]
rs61793409	0.88[ASN][1000 genomes]
rs61793415	1.00[ASN][1000 genomes]
rs61793416	1.00[ASN][1000 genomes]
rs61793417	1.00[ASN][1000 genomes]
rs61793421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6821091	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7664692	1.00[ASN][1000 genomes]
rs7679108	1.00[ASN][1000 genomes]
rs7691588	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:22489600-22503800	Weak transcription	HSMM	muscle
4	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
5	chr4:22492800-22506000	Weak transcription	Lung	lung
6	chr4:22493200-22504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
9	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:22500400-22504200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:22500400-22504400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:22500400-22510600	Enhancers	HMEC	breast
15	chr4:22500600-22504200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:22500600-22504400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:22500600-22504600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:22500600-22505600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:22500600-22507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:22500800-22506600	Enhancers	Fetal Heart	heart
22	chr4:22500800-22507600	Weak transcription	Ovary	ovary
23	chr4:22501000-22504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:22501000-22505600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:22501000-22506000	Weak transcription	Brain Germinal Matrix	brain
26	chr4:22501200-22503800	Enhancers	Fetal Intestine Large	intestine
27	chr4:22501200-22505000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:22501200-22505200	Weak transcription	Brain Anterior Caudate	brain
29	chr4:22501400-22503800	Enhancers	Fetal Intestine Small	intestine
30	chr4:22501400-22504000	Enhancers	HepG2	liver
31	chr4:22501400-22504200	Enhancers	Liver	Liver
32	chr4:22501400-22505400	Enhancers	Hela-S3	cervix
33	chr4:22501800-22506800	Enhancers	Pancreas	Pancrea
34	chr4:22501800-22508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:22502000-22504000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:22502000-22505000	Enhancers	NH-A	brain
37	chr4:22502000-22505400	Enhancers	A549	lung
38	chr4:22502000-22506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:22502200-22506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:22502200-22515600	Weak transcription	Primary T cells from cord blood	blood
41	chr4:22502400-22504200	Weak transcription	HSMMtube	muscle
42	chr4:22502600-22504400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:22502600-22505200	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:22502600-22505400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:22502800-22503800	Weak transcription	Gastric	stomach
46	chr4:22502800-22504000	Weak transcription	Fetal Lung	lung
47	chr4:22502800-22504400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:22502800-22504600	Weak transcription	Osteobl	bone
49	chr4:22502800-22504800	Enhancers	Duodenum Mucosa	Duodenum
50	chr4:22502800-22505600	Enhancers	HUVEC	blood vessel

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